ClinVar Miner

Variants in gene CDKN2A

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
57 52 338 135 24 19 12 542

Condition and significance breakdown #

Total conditions: 29
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 31 23 173 69 14 0 0 291
Hereditary cutaneous melanoma 37 15 181 46 10 0 0 288
not provided 17 7 78 11 8 0 0 115
not specified 0 0 23 52 12 0 12 82
Melanoma-pancreatic cancer syndrome 6 3 23 20 6 0 0 58
Cutaneous malignant melanoma 2 1 0 11 2 0 19 0 33
Malignant melanoma of skin 0 10 0 0 0 0 0 10
Squamous cell carcinoma of the head and neck 0 10 0 0 0 0 0 10
Neoplasm 0 9 0 0 0 0 0 9
Squamous cell carcinoma of the skin 0 9 0 0 0 0 0 9
Adenocarcinoma of stomach 0 7 0 0 0 0 0 7
Pancreatic adenocarcinoma 0 7 0 0 0 0 0 7
Squamous cell lung carcinoma 0 6 0 0 0 0 0 6
Lung adenocarcinoma 0 5 0 0 0 0 0 5
Transitional cell carcinoma of the bladder 0 5 0 0 0 0 0 5
Hepatocellular carcinoma 0 4 0 0 0 0 0 4
Melanoma-pancreatic cancer syndrome; Cutaneous malignant melanoma 2; Melanoma astrocytoma syndrome 2 0 2 0 0 0 0 4
Cutaneous melanoma 1 2 0 0 0 0 0 3
Neoplasm of the large intestine 0 3 0 0 0 0 0 3
Adenocarcinoma of prostate 0 1 0 0 0 0 0 1
Carcinoma of esophagus 0 1 0 0 0 0 0 1
Cutaneous malignant melanoma 1 1 0 0 0 0 0 0 1
Inborn genetic diseases 1 0 0 0 0 0 0 1
Melanoma 0 0 1 0 0 0 0 1
Melanoma astrocytoma syndrome 1 0 0 0 0 0 0 1
Orolaryngeal cancer, multiple 1 0 0 0 0 0 0 1
Osteoblastic Osteosarcoma 0 0 1 0 0 0 0 1
Papillary renal cell carcinoma, sporadic 0 1 0 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 36 15 181 46 10 0 0 288
Ambry Genetics 25 19 93 37 6 0 0 180
Color 10 5 102 47 13 0 0 177
GeneDx 22 6 65 46 7 0 0 146
Counsyl 4 3 23 20 6 0 0 56
Integrated Genetics/Laboratory Corporation of America 2 0 22 4 3 0 0 31
Quest Diagnostics Nichols Institute San Juan Capistrano 2 1 17 8 8 0 0 30
PreventionGenetics 0 1 8 8 7 0 0 24
OMIM 4 0 0 0 0 19 0 21
Database of Curated Mutations (DoCM) 0 19 0 0 0 0 0 19
Mendelics 0 0 11 2 0 0 0 13
ITMI 0 0 0 0 0 0 12 12
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 7 0 2 0 0 9
True Health Diagnostics 0 0 2 2 2 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 0 1 2 0 0 5
Fulgent Genetics 2 0 2 0 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 1 1 0 0 3
University of Washington Department of Laboratory Medicine,University of Washington 1 0 1 1 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 1 0 0 0 0 2
GeneKor MSA 0 0 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 2 0 0 0 0 2
Center for Human Genetics, Inc 1 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 1

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